SNP Links for Protein (Select 767958073) - SNP

Links from Protein

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Select item 14908140731.

rs1490814073 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:127517864 (GRCh38)
9:130280143 (GRCh37)
Canonical SPDI:: NC_000009.12:127517863:A:G
Gene:: NIBAN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000009.12:g.127517864A>G, NC_000009.11:g.130280143A>G, NM_022833.4:c.667T>C, NM_022833.3:c.667T>C, NM_022833.2:c.667T>C, XM_005252135.3:c.886T>C, XM_005252135.2:c.742T>C, XM_005252135.1:c.634T>C, NM_001035534.3:c.628T>C, NM_001035534.2:c.628T>C, NM_001035534.1:c.628T>C, XM_011518925.2:c.757T>C, XM_011518925.1:c.757T>C, NP_073744.2:p.Tyr223His, XP_005252192.3:p.Tyr296His, NP_001030611.1:p.Tyr210His, XP_011517227.1:p.Tyr253His

Select item 14904547982.

rs1490454798 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:127525075 (GRCh38)
9:130287354 (GRCh37)
Canonical SPDI:: NC_000009.12:127525074:A:G
Gene:: NIBAN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.127525075A>G, NC_000009.11:g.130287354A>G, NM_022833.4:c.404T>C, NM_022833.3:c.404T>C, NM_022833.2:c.404T>C, XM_005252135.3:c.623T>C, XM_005252135.2:c.479T>C, XM_005252135.1:c.371T>C, NM_001035534.3:c.365T>C, NM_001035534.2:c.365T>C, NM_001035534.1:c.365T>C, XM_011518925.2:c.494T>C, XM_011518925.1:c.494T>C, NP_073744.2:p.Ile135Thr, XP_005252192.3:p.Ile208Thr, NP_001030611.1:p.Ile122Thr, XP_011517227.1:p.Ile165Thr

Select item 14873759753.

rs1487375975 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:127561148 (GRCh38)
9:130323427 (GRCh37)
Canonical SPDI:: NC_000009.12:127561147:C:G
Gene:: NIBAN2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.127561148C>G, NC_000009.11:g.130323427C>G, XM_005252135.3:c.274G>C, XM_005252135.2:c.130G>C, XM_005252135.1:c.22G>C, XM_011518925.2:c.145G>C, XM_011518925.1:c.145G>C, XP_005252192.3:p.Glu92Gln, XP_011517227.1:p.Glu49Gln

Select item 14873374664.

rs1487337466 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:127507024 (GRCh38)
9:130269303 (GRCh37)
Canonical SPDI:: NC_000009.12:127507023:G:C
Gene:: NIBAN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.127507024G>C, NC_000009.11:g.130269303G>C, NM_022833.4:c.2062C>G, NM_022833.3:c.2062C>G, NM_022833.2:c.2062C>G, XM_005252135.3:c.2281C>G, XM_005252135.2:c.2137C>G, XM_005252135.1:c.2029C>G, NM_001035534.3:c.2023C>G, NM_001035534.2:c.2023C>G, NM_001035534.1:c.2023C>G, XM_011518925.2:c.2152C>G, XM_011518925.1:c.2152C>G, NP_073744.2:p.Pro688Ala, XP_005252192.3:p.Pro761Ala, NP_001030611.1:p.Pro675Ala, XP_011517227.1:p.Pro718Ala

Select item 14837039745.

rs1483703974 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:127506921 (GRCh38)
9:130269200 (GRCh37)
Canonical SPDI:: NC_000009.12:127506920:T:C
Gene:: NIBAN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.127506921T>C, NC_000009.11:g.130269200T>C, NM_022833.4:c.2165A>G, NM_022833.3:c.2165A>G, NM_022833.2:c.2165A>G, XM_005252135.3:c.2384A>G, XM_005252135.2:c.2240A>G, XM_005252135.1:c.2132A>G, NM_001035534.3:c.2126A>G, NM_001035534.2:c.2126A>G, NM_001035534.1:c.2126A>G, XM_011518925.2:c.2255A>G, XM_011518925.1:c.2255A>G, NP_073744.2:p.Gln722Arg, XP_005252192.3:p.Gln795Arg, NP_001030611.1:p.Gln709Arg, XP_011517227.1:p.Gln752Arg

Select item 14819703946.

rs1481970394 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:127507187 (GRCh38)
9:130269466 (GRCh37)
Canonical SPDI:: NC_000009.12:127507186:C:A
Gene:: NIBAN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000009.12:g.127507187C>A, NC_000009.11:g.130269466C>A, NM_022833.4:c.1899G>T, NM_022833.3:c.1899G>T, NM_022833.2:c.1899G>T, XM_005252135.3:c.2118G>T, XM_005252135.2:c.1974G>T, XM_005252135.1:c.1866G>T, NM_001035534.3:c.1860G>T, NM_001035534.2:c.1860G>T, NM_001035534.1:c.1860G>T, XM_011518925.2:c.1989G>T, XM_011518925.1:c.1989G>T

Select item 14807881767.

rs1480788176 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:127527212 (GRCh38)
9:130289491 (GRCh37)
Canonical SPDI:: NC_000009.12:127527211:C:T
Gene:: NIBAN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000009.12:g.127527212C>T, NC_000009.11:g.130289491C>T, NM_022833.4:c.297G>A, NM_022833.3:c.297G>A, NM_022833.2:c.297G>A, XM_005252135.3:c.516G>A, XM_005252135.2:c.372G>A, XM_005252135.1:c.264G>A, NM_001035534.3:c.258G>A, NM_001035534.2:c.258G>A, NM_001035534.1:c.258G>A, XM_011518925.2:c.387G>A, XM_011518925.1:c.387G>A

Select item 14767706798.

rs1476770679 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:127523824 (GRCh38)
9:130286103 (GRCh37)
Canonical SPDI:: NC_000009.12:127523823:A:G
Gene:: NIBAN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.127523824A>G, NC_000009.11:g.130286103A>G, NM_022833.4:c.444T>C, NM_022833.3:c.444T>C, NM_022833.2:c.444T>C, XM_005252135.3:c.663T>C, XM_005252135.2:c.519T>C, XM_005252135.1:c.411T>C, NM_001035534.3:c.405T>C, NM_001035534.2:c.405T>C, NM_001035534.1:c.405T>C, XM_011518925.2:c.534T>C, XM_011518925.1:c.534T>C

Select item 14767217459.

rs1476721745 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:127507421 (GRCh38)
9:130269700 (GRCh37)
Canonical SPDI:: NC_000009.12:127507420:C:A,NC_000009.12:127507420:C:T
Gene:: NIBAN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.127507421C>A, NC_000009.12:g.127507421C>T, NC_000009.11:g.130269700C>A, NC_000009.11:g.130269700C>T, NM_022833.4:c.1665G>T, NM_022833.4:c.1665G>A, NM_022833.3:c.1665G>T, NM_022833.3:c.1665G>A, NM_022833.2:c.1665G>T, NM_022833.2:c.1665G>A, XM_005252135.3:c.1884G>T, XM_005252135.3:c.1884G>A, XM_005252135.2:c.1740G>T, XM_005252135.2:c.1740G>A, XM_005252135.1:c.1632G>T, XM_005252135.1:c.1632G>A, NM_001035534.3:c.1626G>T, NM_001035534.3:c.1626G>A, NM_001035534.2:c.1626G>T, NM_001035534.2:c.1626G>A, NM_001035534.1:c.1626G>T, NM_001035534.1:c.1626G>A, XM_011518925.2:c.1755G>T, XM_011518925.2:c.1755G>A, XM_011518925.1:c.1755G>T, XM_011518925.1:c.1755G>A, NP_073744.2:p.Glu555Asp, XP_005252192.3:p.Glu628Asp, NP_001030611.1:p.Glu542Asp, XP_011517227.1:p.Glu585Asp

Select item 147476389810.

rs1474763898 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:127506984 (GRCh38)
9:130269263 (GRCh37)
Canonical SPDI:: NC_000009.12:127506983:A:G
Gene:: NIBAN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000546/1 (Korea1K)
HGVS:: NC_000009.12:g.127506984A>G, NC_000009.11:g.130269263A>G, NM_022833.4:c.2102T>C, NM_022833.3:c.2102T>C, NM_022833.2:c.2102T>C, XM_005252135.3:c.2321T>C, XM_005252135.2:c.2177T>C, XM_005252135.1:c.2069T>C, NM_001035534.3:c.2063T>C, NM_001035534.2:c.2063T>C, NM_001035534.1:c.2063T>C, XM_011518925.2:c.2192T>C, XM_011518925.1:c.2192T>C, NP_073744.2:p.Leu701Pro, XP_005252192.3:p.Leu774Pro, NP_001030611.1:p.Leu688Pro, XP_011517227.1:p.Leu731Pro

Select item 147457111211.

rs1474571112 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:127517197 (GRCh38)
9:130279476 (GRCh37)
Canonical SPDI:: NC_000009.12:127517196:A:G
Gene:: NIBAN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.127517197A>G, NC_000009.11:g.130279476A>G, NM_022833.4:c.725T>C, NM_022833.3:c.725T>C, NM_022833.2:c.725T>C, XM_005252135.3:c.944T>C, XM_005252135.2:c.800T>C, XM_005252135.1:c.692T>C, NM_001035534.3:c.686T>C, NM_001035534.2:c.686T>C, NM_001035534.1:c.686T>C, XM_011518925.2:c.815T>C, XM_011518925.1:c.815T>C, NP_073744.2:p.Met242Thr, XP_005252192.3:p.Met315Thr, NP_001030611.1:p.Met229Thr, XP_011517227.1:p.Met272Thr

Select item 147331080912.

rs1473310809 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:127507367 (GRCh38)
9:130269646 (GRCh37)
Canonical SPDI:: NC_000009.12:127507366:G:A
Gene:: NIBAN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000009.12:g.127507367G>A, NC_000009.11:g.130269646G>A, NM_022833.4:c.1719C>T, NM_022833.3:c.1719C>T, NM_022833.2:c.1719C>T, XM_005252135.3:c.1938C>T, XM_005252135.2:c.1794C>T, XM_005252135.1:c.1686C>T, NM_001035534.3:c.1680C>T, NM_001035534.2:c.1680C>T, NM_001035534.1:c.1680C>T, XM_011518925.2:c.1809C>T, XM_011518925.1:c.1809C>T

Select item 147281803713.

rs1472818037 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:127510209 (GRCh38)
9:130272488 (GRCh37)
Canonical SPDI:: NC_000009.12:127510208:G:A
Gene:: NIBAN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.127510209G>A, NC_000009.11:g.130272488G>A, NM_022833.4:c.1098C>T, NM_022833.3:c.1098C>T, NM_022833.2:c.1098C>T, XM_005252135.3:c.1317C>T, XM_005252135.2:c.1173C>T, XM_005252135.1:c.1065C>T, NM_001035534.3:c.1059C>T, NM_001035534.2:c.1059C>T, NM_001035534.1:c.1059C>T, XM_011518925.2:c.1188C>T, XM_011518925.1:c.1188C>T

Select item 146873665714.

rs1468736657 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:127568851 (GRCh38)
9:130331130 (GRCh37)
Canonical SPDI:: NC_000009.12:127568850:G:C
Gene:: NIBAN2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: C=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.127568851G>C, NC_000009.11:g.130331130G>C, NM_022833.4:c.24C>G, NM_022833.3:c.24C>G, NM_022833.2:c.24C>G, XM_011518925.2:c.24C>G, XM_011518925.1:c.24C>G, NP_073744.2:p.His8Gln, XP_011517227.1:p.His8Gln

Select item 146706023515.

rs1467060235 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:127507156 (GRCh38)
9:130269435 (GRCh37)
Canonical SPDI:: NC_000009.12:127507155:G:A
Gene:: NIBAN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.127507156G>A, NC_000009.11:g.130269435G>A, NM_022833.4:c.1930C>T, NM_022833.3:c.1930C>T, NM_022833.2:c.1930C>T, XM_005252135.3:c.2149C>T, XM_005252135.2:c.2005C>T, XM_005252135.1:c.1897C>T, NM_001035534.3:c.1891C>T, NM_001035534.2:c.1891C>T, NM_001035534.1:c.1891C>T, XM_011518925.2:c.2020C>T, XM_011518925.1:c.2020C>T, NP_073744.2:p.Pro644Ser, XP_005252192.3:p.Pro717Ser, NP_001030611.1:p.Pro631Ser, XP_011517227.1:p.Pro674Ser

Select item 146624819516.

rs1466248195 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:127506998 (GRCh38)
9:130269277 (GRCh37)
Canonical SPDI:: NC_000009.12:127506997:T:C
Gene:: NIBAN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000009.12:g.127506998T>C, NC_000009.11:g.130269277T>C, NM_022833.4:c.2088A>G, NM_022833.3:c.2088A>G, NM_022833.2:c.2088A>G, XM_005252135.3:c.2307A>G, XM_005252135.2:c.2163A>G, XM_005252135.1:c.2055A>G, NM_001035534.3:c.2049A>G, NM_001035534.2:c.2049A>G, NM_001035534.1:c.2049A>G, XM_011518925.2:c.2178A>G, XM_011518925.1:c.2178A>G

Select item 146458721317.

rs1464587213 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:127516905 (GRCh38)
9:130279184 (GRCh37)
Canonical SPDI:: NC_000009.12:127516904:T:C
Gene:: NIBAN2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.127516905T>C, NC_000009.11:g.130279184T>C, NM_022833.4:c.925A>G, NM_022833.3:c.925A>G, NM_022833.2:c.925A>G, XM_005252135.3:c.1144A>G, XM_005252135.2:c.1000A>G, XM_005252135.1:c.892A>G, NM_001035534.3:c.886A>G, NM_001035534.2:c.886A>G, NM_001035534.1:c.886A>G, XM_011518925.2:c.1015A>G, XM_011518925.1:c.1015A>G, NP_073744.2:p.Met309Val, XP_005252192.3:p.Met382Val, NP_001030611.1:p.Met296Val, XP_011517227.1:p.Met339Val

Select item 146401607718.

rs1464016077 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:127523842 (GRCh38)
9:130286121 (GRCh37)
Canonical SPDI:: NC_000009.12:127523841:G:A
Gene:: NIBAN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000068/3 (ALFA)
A=0.000012/3 (GnomAD_exomes)
A=0.000029/4 (GnomAD)
A=0.000038/10 (TOPMED)
HGVS:: NC_000009.12:g.127523842G>A, NC_000009.11:g.130286121G>A, NM_022833.4:c.426C>T, NM_022833.3:c.426C>T, NM_022833.2:c.426C>T, XM_005252135.3:c.645C>T, XM_005252135.2:c.501C>T, XM_005252135.1:c.393C>T, NM_001035534.3:c.387C>T, NM_001035534.2:c.387C>T, NM_001035534.1:c.387C>T, XM_011518925.2:c.516C>T, XM_011518925.1:c.516C>T

Select item 146354508319.

rs1463545083 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:127507298 (GRCh38)
9:130269577 (GRCh37)
Canonical SPDI:: NC_000009.12:127507297:G:A
Gene:: NIBAN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000009.12:g.127507298G>A, NC_000009.11:g.130269577G>A, NM_022833.4:c.1788C>T, NM_022833.3:c.1788C>T, NM_022833.2:c.1788C>T, XM_005252135.3:c.2007C>T, XM_005252135.2:c.1863C>T, XM_005252135.1:c.1755C>T, NM_001035534.3:c.1749C>T, NM_001035534.2:c.1749C>T, NM_001035534.1:c.1749C>T, XM_011518925.2:c.1878C>T, XM_011518925.1:c.1878C>T

Select item 146163802620.

rs1461638026 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:127507310 (GRCh38)
9:130269589 (GRCh37)
Canonical SPDI:: NC_000009.12:127507309:C:T
Gene:: NIBAN2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.127507310C>T, NC_000009.11:g.130269589C>T, NM_022833.4:c.1776G>A, NM_022833.3:c.1776G>A, NM_022833.2:c.1776G>A, XM_005252135.3:c.1995G>A, XM_005252135.2:c.1851G>A, XM_005252135.1:c.1743G>A, NM_001035534.3:c.1737G>A, NM_001035534.2:c.1737G>A, NM_001035534.1:c.1737G>A, XM_011518925.2:c.1866G>A, XM_011518925.1:c.1866G>A

dbSNP

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